Genes/Genomics + Fetal lifespan

What are Chromosomal Anomalies?

Structural/Numerical changes in autosome/s3x chromosomes

• During mitosis/meiosis

• Occurs prenatally, before implantation, or postnatally

Why do chromosomal anomalies matter? (and important components of care)

They can lead to:

• Spontaneous Abortion

• Fetal demise, neonatal death/hospitalization

• Physical deformities or intellectual issues

Accurate identification + genetic counseling + prevention + treatment

Numerical chromosomal disorders and r/x factors:

Aneuploidy: abnormal #

• Monosomy/Trisomy

R/x:

• Mom >35, higher BMI

• Previous child w/trisomy

• Unexpected recombination

• Smoking, Radiation

• Folic acid deficiency

Major Autosomal Trisomies:

Trisomy 13 → Patau syndrome

Trisomy 18 → Edwards syndrome

Trisomy 21 → Down Syndrome

Trisomy 21 etiology, r/x, and s/s

1 in 700/800 babies

• Increased r/x w/Maternal age

  • However, due to younger clients having more prengnancies, more newborns w/Trisomy 21 are from younger clients

• Median lifespan is 47 years

S/s:

• Face/Head:

  • Flat facial appearance, flat nose

  • Wide-set eyes, upward slant

  • Small ears, Short neck

  • Protruding Tongue

• Extremities:

  • Small hands, feet

  • Single palmar crease

• Muscle tone:

  • Hypotonia

Trisomy 21 Associated Health Problems:

May lead to:

• VIsion, Hearing issues

• Sleep Apnea

• Congenital Heart Defects: Affects 50% of neonates

  • ToF, AVSD, VSD, PDA

Why are children with Trisomy 21 at an increase feeding/aspiration concern?

Hypotonia → poor muscle control → dysphagia

Congenital heart defects → ^ respiratory rate & effort → fatigue and poor endurance → issues coordinating breathing AND swallowing → increased aspiration r/x when eating

Other factors:

• Protruding tongue

• Poor lip seal

• Fatigue

• Absent Feeding cues

Describe the Normal Structure of the Chromosome:

P: short arm

^

Centromere: holds both arms together

• Also determines shape and reference point for gene location

v

Q: long arm

Telomeres: DNA sections at end of chromosome

• Protects chromosome during DNA replicaiton

Structural Chromosomal Anomalies and Types

Results from improper repair when chromosome breakes OR imbalanced exchange of chromosome material

Types:

• D:.

  • Deletion: DNA segment loses one or more nucleotides

  • Duplication: DNA segment produces 1 or more copies

• Translocation: chromosome splits and the 2 pieces reattach to other chromosomes

• Inversion: segments splits off and rejoins same chromosome in opposite direction

• Ring: fused together ends of chromosomes → forms ring

S3x Chromosome Anomalies and Types:

Affects 1:400 births

Turner Syndrome: 45 X

Klinefelter syndrome: 47 XXY

Triple X syndrome: 47 XXX

48 XXY

XYY syndrome

Turner Syndrome and s/s:

Females (45 X)

• Short Stature, Wide chest, Webbed neck Low hairline

• Early ovarian loss

• Lymphedema, Amenorrhea

• Structural kidney and heart defects

Klinefelter Syndrome and s/s

Occurs in Males (47 XXY)

• Tall stature, Long extremities

• Female-pattern body hair distributions

• Delayed puberty → Small testes → infertile

• Developmental Delays

• Increased Breast cancer r/x

Triple X Syndrome and s/s

Occurs in females (47, XXX)

• Increased height

• Learning issues, delayed speech/language, behavioral issues

• Hypotonia, Seizures, Kidney abnormalities

XYY Syndrome and S/s:

Occurs in Males (XYY)

• Taller than average

• Delayed learning, speech/language, and motor development & Behavioral issues

• Hypotonia, Hand tremors

• Asthma, Seizures, Scoliosis

• Larger teeth

What is Multifactorial inheritance? (and examples)

Complex disorders resulting from multiple genes + environment + lifestyle

• “polygenetic inheritance”

• T2DM, Heart disease, Higher BMI

• Makes it difficult to predicts due to many factors and families often sharing same environment and lifestyle

Unifactorial / Single-Gene Disorders, types, and rules:

Caused by a DNA mutation in ONE gene

• More predictable inheritance patterns

Autosomal Dominant:

• 1 mutated copy may cause disorder OR a new/”de novo” mutation can occur

  • Possible no family h/x due to de novo mutation

• E.g. Huntington and Marfans

Autosomal Recessive:

• Both gene copies must contain mutation

  • May skip generations due to possible carriers

• E.g. CF, Sickle cell or PKU

X-linked dominant

• 1 copy causes this

• can occur with females (XX) and males too (XY)

• “Fragile X syndrome”

X-linked recessive:

• One mutated X gene in male can cause this due to them only having 1 X (XY)

• Female needs both Xs mutated (XX)

• '“Hemophilia”

X-Linked Rule:

• Due to father only giving Y chromosomes to son, no male-to male transmission occurs

• Father may pass his X chromosome to daugher though

Phenylketonuria (PKU) and screenings & t/x:

Autosomal recessive that involves the PAH deficiency/absence → Phenylanine not broken down → accumulates → high levels dmg brain → severe intellectual disability

Screening:

• First day of life via routine newborn a/x

T/x:

• Phenylanine-restricted diet

What are carcinogens?

something capable of contributing to cancer development by causing or promoting harmful genetic changes.

• Cancer may occur randomly or due to carcinogen exposure over many years

Is cancer inherited?

no

What Is Preconception Carrier Screening? How is it performed? What are the types?

Genetic testing done before pregnancy to check whether someone has a mutated gene

• Checks if mother/father may be carriers

Done via blood, saliva, or cheek tissue testing

Types:

• Targeted Carrier Screening: screens based on ethnicity, race, or family h/x

  • Tay sachs is more common amongst Ashkenazi/eastern Europe ancestry

• Expanded Carrier Screening: screens for many conditions w/out race/ethnicity in play

What Can Clients Do With a Positive Carrier Result?

Option 1 → Proceed with pregnancy

• Should choose more frequent prenatal testing

Option 2 → IVF

• Allows embryo to be tested for disorders before transfer back to uterus

Option 3 → Donor egg/sperm

• Choose reproductive material of a donor who is not a carrier

Option 4 → Don’t proceed

Who should be offered prenatal testing and who is considered high risk?

Everyone should be offered prenatal testing despite risk levels

High Risk:

• ^ Mom age

• Personal genetic disorder

• Family h/x

  • Aneuploidy

• Previous spontaneous abortion or fetal demise

• Exposure to dangerous meds/substances

First trimester testings:

Done around 10-13 weeks of gestation

• Cell Free Fetal DNA

  • no fetal r/x from blood collection

  • Done as early as 10 weeks

  • Screens for:

    • Trisomy 21, 18, & 13

• Nuchal Translucency (NT): US screening

  • Checks for amount of fluid in back of neck

  • Done around 11-13 weeks

  • Screens for:

    • Trisomy 21 + 18 and cardiac anomalies

    • Helpful when using HcG and PAPP-A testing too

• CVS: invasive and early DIAGNOSTIC procedure that collects placental tissue sample

  • Done around 10-13 weeks

  • Can also determine fetus gender

CVS Routes, Risks and Precautions:

Routes:

• Transcervical: through cervix → chorionic villi

• Transabdominal: through abdomen → chorionic villi

• Uses US for guidance

R/x:

• Bleeding, Infection

• Spontaneous abortion, membrane rupture

• Inconclusive results

• If Rh negative mom + Rh positive fetus

  • ^ r/x for fetal hemolytic disease with CVS

If patient taking Anticoags → ^ r/x for bleeding

• caution

What four screenings does second trimester have

Quad screen

Anatomy ultrasound/scan

AFP

Amniocentesis

What is Quad screen?

Quad screen a blood test that measures:AFP + HCG + Estriol + Inhibin-A

• A-H-E-I

  • Elevated INHIBIN-A increases ability to predict trisomy 21 risk and avoid false positive results

• Done 15-22 weeks

• Estimates risk for:

  • Trisomy 18 + 21 & neural tube defects

  • If positive = US + Amniocentesis

Anatomy Scan/US

Done 18-22 weeks; a/x spine + face + heart + abdomen & limbs

• Checks for fetal growth, sex, and any possible malformations

Alpha-Fetoprotein:

Can be done as part of the Quad test OR by itself

• Done around 14-22 weeks

  • Optimal around 16-18 weeks

• Recommended for:

  • Family h/x

  • >35 Mom age

  • Exposure to dangeous meds/substances

  • DM

• Checks for:

  • Spina bifida

  • Trisomy 18 + 21

Amniocentesis:

DIAGNOSTIC prenatal test; confirms/rule-out genetic concerns

• Done 2nd trimester or if needed, 3rd trimester

Steps:

1. US guides it (prevents injury)

2. Needle inserted via abdmoen

3. Enter amniotic sac

4. Fluid removed

5. Analyzed

Third Trimester Genetic Testing:

No specific genetic testing done apart from previous ones:

• Cell-Free DNA

  • Can be done up till birth

• US

  • Harder to see due to fetus changing positions

• Amniocenetesis

Reasons for testing:

• Intrauterine infection

• Fetal anemia or lung maturity

• Collecting DNA for paternity testing

Newborn Screening: What Happens?

Done 1-2 days after birth

1. Blood Tests: heel is pricked and drops placed in special paper

   1. Results avaliable after 5-7 days

   2. For metabolic/genetic screenings

2. Hearing Screening: tiny earphones placed and connected to equipment → evaluates newborn’s response to sound

3. Cardiac screening: O2 saturation measured to check for Critical congenital heart defects

What Conditions Are Screened for Newborns?

Endocrine Disorders

• Organic Acid Disorders: impairs body’s ability to break down protein

• Fatty Acid Oxidation Disorders: impairs ability to convert lipids into energy

  • May lead to coma, seizures, or death if nutrition is not met

• Amino acid metabolism disorders

• PKU

Hemoglobin Disorders

Critical Congenital Heart Defect Screening; how is it performed? result types too?

Checked before newborn discharge

• I/x congenital heart disease while bebe is in a nonemergent sate

How is it performed?

• Right hand (preductal)

• Lower extremity (postductal)

Results:

• Infant passess if:

  • O2 sat > 95%

  • and difference between readings is <3%

• Not normal if result is outside expected range and inconclusive

  • Repeat screening in 1 hour → if abnormal again → another hour later

What is the difference between a genetic counselor/provider role and RN role in regards to genetics & genomics?

Primary provider is responsible for discussing:

• Why test is done

• Risks, Benefits

• Alternatives

• May also assist with family planning before getting conception

• Provides resources:

  • Emotional support, community, treatment resources

RN:

• Helps pt understand, prepare, pariticipate and receive appropriate support/referrals

Key pregnancy terms:

fertilization → zygote → blastocyst → implantation → embryo

Zygote: single cell formed when sperm fertilizes the ovum

Gestational age: age of pregnancy from first day of LMP

Fetus: developing human; after embryonic period

Embryogenesis: building embryo at start of fertilization

Blastocyst: early developing structure that implants to uterus

• 5 days after fertilization

Implantation: attachment of blastocyst to uterine lining

• week 4 of gestation

Menstrual Cycle to Fertilization:

Weeks 1-2 of cycle

• FSH → matures ovarian follicle → produces estradiol → high amounts = ^ LH → ovulation → ovum released → fertilization → zygote

Periods of Prenatal Development

Period	Approximate gestational timing	Major event
Pre-embryonic period	Through the end of week 4	Fertilization, cell division, blastocyst formation, implantation Day 56: most prominent in embryo injury
Embryonic period	Week 5 through week 10	Major organs and body structures develop Most vulnerable to teratogens as major organs are still developing
Fetal period	Beginning week 11 through birth	Growth and maturation of existing structures

The Four Blastocyst Membranes

Membrane	Main function	Memory
Amnion	Produces/contains amniotic fluid	Amnion → Amniotic
Chorion	Contributes to placenta formation	Chorion → placenta
Allantois	Helps remove nitrogenous waste	Allantois → waste
Yolk sac	Provides early nutrition and gas exchange before placenta develops	Yolk sac → early support

What is zona pellucida and how does it relate to implantation?

Zona pellucida surrounds developing blastocyst

• prevents from prematurely attaching to fallopian tube

• After implantation occurs

Implantation:

• Around 4 weeks of gestation

• Endometrium is alr thick + vascular + prepared for blastocyst arrival

• END OF PRE-EMBRYONIC PERIOD

Embryonic Period and Major developments:

Rapid organ and body system development

• Weeks 5-10

• Cell multiplication increases; differentiation occurs

  • One group of cells → nerve cells

  • Another group → muscle cells

  • Another → blood cells

• MOST vulnerable to teratogens

Major Developments:

• Blood cells

• Kidneys

• Nervous System

• Muscles

• Limbs

• Heart

• GI

• Respiratory structure

• Reproductive structures

• Sensory Structures

Teratogenic types:

Certain meds

Chemicals

Radiation

Cannabis

Illicit drugs

Alcohol

Rubella infections

Poor immunization

Week 5 of Embryonic development:

MK

• Limb buds appear

• Muscles start developing

CV

• Heart begins developing

• Blood cells develop

Resp

• Trachea and bronchi form

GI

• GI begins developing

GU

• Urinary system begins developing

• Bladder and Kidneys start forming

• Ovaries begin developing

Neuro

• Nerve cells develop

• Brain and Spinal cord begin developing

Sensory

• Inner and middle ear begin developing

Week 6-7 of Embryonic development:

MK

• Arms + hands & legs + feet begin forming

• Movement begins

• Tissues that will turn to bones start developing

  • Bone formation begins

• Continued muscle formation

CV

• Embryonic cardiac activity starts

• HR: 110-120/min

• Blood starts pumping via major vessels

Resp

• Lung dev. begins

GI

• Mouth starts forming

• Bowel temporarily moves outside abdomen during development

Neuro

• Continued brain dev.

• PNS nerve ganglia seen

• Tissues develops INTO spinal cord

Sensory

• Retina and nostrils start forming

Week 8 of Embryonic development:

MK

• Limbs become longer

• Hands & feet form

• Fingers & toes start forming

Neuro

• Brain continues dev.

Week 9 of Embryonic development:

MK

• Elbows form

• Finger and toes become visible

Resp

• Breathing movements seen

Sensory

• Nipples develop

• Hair follicles develop

GU

• Male: testosterone begins developing

• Male genitalia start forming

Week 10 of Embryonic development:

MK

• Cartilage Replaced with bone cells

GI

• Bowel begins turning back into cavity

Sensory

• Facial features become more distinct

• Eyelid becomes more developed

• Outer ear begins developing

• Fingerprints form

GU

• Kidneys function

• Urine production starts

• Uterus and fallopian tube develop

Amniotic Fluid role between pregnancy stages:

Early pregnancy: fluid comes from

• Maternal serum

• AMniotic cavity

• Coelomic fluid

~Week 10:

• Urine from baby accumulates in placenta and increases amniotic fluid amount

Later pregnancy:

• Mostly from:

  • Fetal urine & fetal lung secretions

  • GI secretions, Placenta, Umbilical cord

Why Does the Fetus Have Amniotic Fluid?

Protection: cushions fetus against maternal trauma

Protects umbilical cord against compression

Antibacterial properties → infection protection

Allows growth: provides room to grow

Nutrient dense

• Vitamins

• Proteins

• Electrolyes

• Immunoglobulins

How does Amniotic fluid mainatin balance/homeostasis:

Fluid entering system (urine or lung secretions)

Fluid leaving system (fetal swallowing + intramembraneous absorption)

Both maintain balance in total amniotic fluid

What is AFI?

Amniotic fluid index: US that assesses (a/x) # of fluid

• Polyhydramnios

• Oligohydramnios

Both types lead to poor fetal outcomes

Functions of the Placenta

Respiratory function: transfer o2 to fetus

Nutrition function: transfers nutrients to fetus

Waste-removal: moves waste to maternal circulation

Endocrine function: produces pregnancy-supporting hormones

Immunological function: transfers mom’s antibodies → fetus

Where is the placenta? What can cross its barrier?

Upper portion of uterus

• IF placenta implants in lower uterine segment → pregnancy issues

• Checked via US

Certain meds, Alcohol, Nicotine, Infections/viruses (rubella), Anti-Rh antibodies

How is the umbilical cord composed? What are its veins and arteries? Possible abnormalities?

Composition:

• 2 arteries + 1 vein

  • Umbilical vein: placental → fetus; carries oxygenated blood

  • Umbilical artery: fetus → placenta; carries deoxygenated blood

• Surrounded by wharton’s jelly

  • Embryonic connective tissue protecting the vessels

• Cord normal inserted in center of placenta

Abnormalities:

• Marginal insertion: inserted at edge of placenta

• Abnormal vessels: Sometimes, vessels may spread out before reaching site → X Wharton’s Jelly protection

  • Increases risk of

    • Fetal/mom hemorrhage

• Use US to evaluate everything related

How does fetal circulation work and what are the shunts?

Lungs not working as primary gas exchange site so, bebe receives o2 from umbilical vein

• Ductus venosus: bypasses liver

• Foramen ovale: bypasses lungs

• Ductus arteriosus: bypasses lungs

Follow blood in fetal circulation

Placenta → Umbilical vein → Ductus venosus → Inferior vena cava → RA → foramen ovale → LA → LV → Aorta → Body

When blood returns from upper body and enters Right atrium (RA), this is the path:

• RA → RV → pulmonary artery → Ductus arteriosus → Aorta

Ductus Venosus, Foramen Ovale, Ductus Arteriosus

Ductus Venosus: Bypasses liver and alllows o2 blood to enter inferior vena cavsa

• This is done because liver does not function before birth

Foramen Ovale:

• Between Right atrium and left atrium

• Allows bypass of lungs

• Due to lungs not working before birth

• Closes after birth due to pressure changes occuring when bebe begins breathing

Ductus Arteriosus:

• Pulmonary artery ←> aorta

• After birth:

  • Closes because blood flow changes and o2 levels increase

Why does fetal hemoglobin and fetal erythropoetin matter?

HbF (Fetal Hgb) is used to compensate for hypoxic environment fetus is in

• This Hgb type has a higher affinity for oxygen → oxygen binds easier

Low o2 environment stimulates fetal kindeys to produce erythropoeitn → RBC stimulation

What are the two major phases of fetal development?

Embryonic period:

• Major body systems and organs develop

  • Done by week 13

• Really rapid growth

Fetal Period:

• Starts week 11

• organs & body system begin to mature and function

• After this, bebe can survive outside womb

Survival rates and growth throughout weeks

• 22–24 weeks: survival is possible in some settings but rates are low

• 27 weeks: still preterm; source reports approximately 94% survival

• 31–34 weeks: rapid growth continues

• 35–37 weeks: continued weight gain and development of sleep patterns

Cardiovascular System development:

Week 5

• Cardiac loop forms

• Septa begin developing

Weeks 5–7

• Septa are present

• Heart may be seen via transvaginal US

• Heart continues dividing into its major sections

End of week 5

• Heart is developed enough to pump blood

End of week 6

• Atrioventricular canal develops

• Right and left sides of the heart become separated by the atrioventricular septum

Week 6

• Beating heart may be visible through transvaginal ultrasound

Weeks 6–7

• Heart rate becomes regular

• Approximately 110–120 beats/min

Week 37

• Heart and blood vessel development is considered complete

Respiratory System development

Week	Development
5	Trachea and esophagus begin developing
7	Right and left bronchi begin forming
8	Structures that will eventually become mature lungs are present
9	Breathing movements can be seen
16	Respiratory tree formed; epithelium lines airways; cilia begin developing
17	Intrapulmonary arteries present
20	Lamellar bodies develop; gas-exchange portion of lungs develops Lamella bodies: store and secrete surfactant *Start of growth surge* Dexamethasone (or other steroids): May be given to prolongue pregnancy in potential preterm births → mature lungs
24	Lungs begin producing surfactant Still not enough to prevent alectasis
24–birth	Lung surface area and terminal sacs continue developing
32	Surfactant becomes more effective at reducing risk of atelectasis
34	Rhythmic breathing becomes evident Done via US
36	Final division of respiratory tree
After birth	Lung development continues

GU development:

Week 5

• Urinary tract begins developing

• Kidney structure is present by the end of the week

Week 6

• Renal pelvis develops

• Kidney lobes form

• Collecting tubules and major calyces develop

Week 7

• Bladder and urethra continue developing

Week 10

• Kidneys begin producing urine

Week 32

• Kidneys are considered fully formed

Reproductive Development

Male development

Week 9

• Testosterone production begins

• Male reproductive structures begin developing:

  • Epididymis

  • Vas deferens

  • Ejaculatory duct

  • Seminal vesicles

Week 12

• Scrotum develops

Week 28

• Testes descend into the inguinal canal

Week 33

• Testes descend into the scrotum

Female Development

Week 5

• Ovaries develop

At birth, ovaries contain approximately:

1–2 million follicles

Week 10

• Uterus forms

• Fallopian tubes form

By week 12

• Genital development is complete but continues to grow in 3rd trimester

• Fetal sex can be identified by ultrasound

Neurological System early development

Neural tube

Around week 4:

• Neural tube closes

  • Incentivize to take folic acid before it closes

• Motor nerve fibers appear

The neural tube becomes the precursor of the:

Brain + spinal cord

Weeks 5–8

Major neurological development occurs:

• Brain vesicles develop

• These contribute to the:

  • Forebrain

  • Midbrain

  • Hindbrain

• Parasympathetic ganglia develop

• All 12 cranial nerves can be detected

• Embryo responds to touch and light

Neurological later development

Weeks 10–12

• Sympathetic trunk appears

• Facial reflexes develop

• Upper-extremity reflexes begin

• Major brain structures can be seen

Week 15

The fetus can demonstrate:

• Startle/Moro reflex

• Twitching

• Swallowing

• General limb movements

Weeks 17–20

• Hormonal response to pain develops

• Rapid eye movement appears

• Quiet and active sleep periods occur

Weeks 26–29

Major maturation occurs:

• Parasympathetic nervous system develops rapidly

• Gross muscle movements are visible

• Hormone production occurs

• Functional brain patterns are present

• Fetus can control body temperature

• Myelination is completed

Hearing Development

Around week 4

Internal ear begins developing.

Week 5

• Cochlear duct develops

• Primordial cochlea develops

Week 16–28

• Eustachian tube develops significantly

Week 18

• Auditory canal becomes formed and patent

Week 23

• Internal ear reaches approximately adult size

Week 26

• Fetus can hear

Eye Development

Starts around week 4

• Neuro tube closes → optic grooves develop → optic vesicles form → optic cup develops → retina begins forming around week 7 → iris + cilliary body develop → lens forms → week 26: eyes developed

Gastrointestinal System development

Week 5

• Digestive structures are distinguishable

Week 7

• Mouth begins forming

Week 11

• Swallowing begins

• Muscle layers are present throughout intestines

Week 12

• Intestinal glands begin developing

• Pancreas begins producing insulin

Week 14

• Continuous mucous membrane forms throughout intestinal tract

• Liver begins producing red blood cells

Week 18

• Liver and pancreas begin producing secretions

Week 22

• Meconium is visible in intestinal tract

Week 24

• GI absorption begins functioning

Week 32

• GI absorption reaches maturation

Musculoskeletal System Development:

Weeks 6–7

• Bone formation begins

• Muscle formation occurs

• Hands and feet begin forming

• Bone → Muscle → Limb

Week 9

• Toes have formed

Week 12

• Upper extremities and associated muscles are present

Week 14

• Fetus can make a fist

18–20 weeks

• A client pregnant with their first child may feel fetal movement

Weeks 23–25

• Bone marrow begins producing blood cells

Week 37

• Bones and muscles are fully developed

When is fetal movement heard? What should mom do?

During 2nd trimester

• Early as 16 weeks; around 18-20 weeks (mostly this range is for first pregnancies)

Sadovsky method:

• count kicks for 30 mins or longer

Integumentary Development

Weeks 11-14:

• Toenails & fingernails present

Weeks 15-18:

• Lanugo appears

Weeks 19-22:

• Lanugo present everywhere

• Eyebrows present

Weeks 23-26:

• Fat storage begins

• FInger/footprints form

• Eyelids open & close

Weeks 27-30:

• Covered with vernix caseosa (thick white subtance covering body)

• Eyelash and eyebrows well-formed

weeks 35-37:

• Less skin wrinkles

• Subcutaneous tissue develops

Weeks 38-40:

• Lanugo only in under arms and shoulders

• Fingernails elongate

• Breast buds appear

• Hair is thicker & coarser

what is Spontaneous Abortion (Miscarriage)? What may mom experience?

Pregnancy loss occuring naturally:

• Usually around 1st trimester; w/out warning

• Mostly due to fetal chromosomal abnormalities and increased mom age

Mom may experience bleeding, cramping, passage of tissue

• Possibly no pain/bleeding at all

The 5 Types of Spontaneous Abortion

Threatened abortion: pregnancy is still viable

• 50% of times it may lead to spontaneous abortion

• Findings:

  • Mild-mod abd cramping

  • vaginal bleeding/spotting

  • Cervix remains closed

  • US shows viable pregnancy

• Priorities:

  • A/x dilation, US, B-hCG, UTI possibility

  • Anxiety/depression

Inevitable abortion:

• Findings:

  • Vaginal bleeding

  • Cervical dilation

  • Cramping, no pregnancy tissue passed yet

Incomplete Abortion:

• Cervix dilated

• Cramping + bleeding

• Some tisse remains and some is loss

Complete Abortion:

• Uterine cramping and bleeding

• All products of conception have passes

• US shows empty uterus

Missed Abortion: Fetus has died but body hasn’t expelledit

• No signs of life, no uterine contraction

• No vaginal bleeding

• S/s of pregnancy may stil occur or regress

• D/x:

  • B-hCG and pelvic US

    • If B-hcG > 3000 → pregnancy should be visible

      • falling numbers = nonviable pregnancy

Not every miscarriage will have pain or bleeding

Risk factors (r/x) for Complete spontaneous abortion:

Most common:

• Fetal chromosomal abnormalities

Mom:

• Diabetes

• Celiac disease

• Autoimmune disorders

• Maternal age ≥35

• Previous pregnancy loss

• Uterine structural abnormalities

• Hypertension

• Malnutrition

Lifestyle:

• Illicit drug use

• Cigarette smoking

• Exposure to Arsenic or Lead

• Large amounts of caffeine

• Alcohol consumption

Infection

• Parvovirus B19

• Zika virus

• Cytomegalovirus

• Syphilis

Specific risk factors for Threatened or MIssed abortion:

Threatened:

• Maternal age ≥35

• First pregnancy

• Hyperemesis gravidarum

• Placenta previa

• Gestational diabetes

• Low socioeconomic status

Missed:

• Maternal age ≥30

• BMI >24

• Embryo/fetus measuring larger or smaller than expected

  • “size discrepancy”

Important tests done to check for abortion:

Test	Purpose
Ultrasound	Examines uterine contents and pregnancy viability
Quantitative β-hCG	Evaluates pregnancy progression/viability
Vaginal cervical examination	Determines cervical dilation
Urinalysis	Especially important with threatened abortion because UTI can be associated
Blood type/Rh status	Determines need for Rho(D)-immune globulin

Rh Status, and how it should be given?

If mom Rh-Negtive → RhoGAM

• If not given → alloimmunized after exposed to Rh + fetal blood → in future pregnancy → erythroblastosis fetalis

• Timing:

  • W/in 72 hours of spontaneous abortion, termination or vaginal bleeding

What things should a RN educate patient what may be considered signs of abortion? What follow ups would be done?

Heavy vaginal bleeding + severe cramping + fever

• Saturating 1-2 pads per hour for 2 hours

Follow ups:

• Transvaginal US, B-hCG, continuous monitoring

• Acetominophen for pain meds

• ASSESS for:

  • Depression, Anxiety, Grief, PTSD → counseling, support groups, support

What are the 3 treatment options of spontaneous abortions?

Conservative Management:

• Monitoring for spontaneous passage of products

• 80% of abortions pass by themselves

Medical Management:

• Misoprostol (^ uterine contractions) or used with Mifepristone (blocks PG which stops pregnancy):

  • Takes 3 days for meds to aid complete expelling of abortion tissues

  • Report soaking 2 pads in 1 hour to provider if taking Mifepristone

DIlation and Curetage: removes tissue from uterus

• Done when there is:

  • Infection, hemodynamic unstable, severe anemia

  • Bleeding disorder, CV disorders

• Can be conjucted with meds

Complications of Spontaneous Abortion Treatment

Infection and Hemorrhage

Other:

• Hypovolemic shock

• DIC

• Retained products of conception

• Excessive vaginal bleeding

Surgical complications can include:

• Cervical laceration

• Uterine perforation

Reasons for Induced Abortion:

• Undesired pregnancy

• Maternal health concerns

• Fetal congenital anomalies

• Medical conditions that make pregnancy dangerous

Therapeutic abortion

• Maternal medical reasons

• Fetal nonviability

Conditions That Can Make Pregnancy Dangerous

Cardiovascular

• Severe cardiovascular disease

• Left ventricular heart failure

Renal

• Severe kidney disease

• Acute renal failure

Pulmonary

• Pulmonary arterial hypertension

What is Selective Reduction?

Done to lower number of fetuses in mutlfetal pregnancy due to higher risk of having preterm birth and pregnancy complication

Before an induced abortion, what should be done?

Confirm pregnancy via:

• Vaginal US or abdominal US

Medication Abortion (what meds, common effects, contraindications, and complications)

Mifepristone → Misoprostol

• Mifepristone: stops PG → X pregnancy

• Misoprostol:

  • Cervical dilation, contractions, vaginal bleeding, passage of clots, & expulsion of contents

  • Taken 24-48 hrs AFTER mifepristone

Common effects:

• Cramps, bleeding, clots, N/V, Diarrhea, Fever/Chills, Headaches

• Most intense pain occurs 2.5-4 hours after misoprostol → lasts 1 hr

  • Bleeding may occur for several weeks after

Contraindications:

• IUD, ectopic pregnancy

• Anticoagulation therapy

• Chronic adrenal failure

• Porphyria, Hemodynamically unstable

Complications:

• Pain, Infection

• Heavy bleeding

  • >2 pads in 2 hrs

• If products not passed within 24 hrs → provider

Procedural Abortion

Procedure	Typical gestational range in source
Manual vacuum evacuation	4–10 weeks
Suction curettage	6–14 weeks
Dilation and extraction	14–24 weeks

Procedural Abortion Complications

Minor

• Vasovagal response

• Heavy bleeding

• Unsuccessful procedure requiring repeat suction

Serious

• Uterine perforation

• Infection

• Sepsis

• Hemorrhage

Post-Abortion Teaching

• Avoid putting anything in the vagina for the period specified by the provider/facility instructions

• Use contraception if pregnancy prevention is desired

• Keep follow-up appointments

Contact provider if:

• Soaking 2 pads in 2 hours

• Clots larger than a lemon for ≥2 hours

• Temperature ≥38°C (100.4°F) for 24 hours

• Pregnancy s/s

• Moderate–severe abdominal/back pain

• Vomiting/diarrhea lasting >24 hours

• Foul-smelling vaginal discharge

What is the classical triad of post-abortion complication:

PAIN + BLEEDING + LOW-GRADE FEVER

Most likely due to retained products of conception

• Infection may develop → septic shock

  • v BP, ^ HR, ^ /vTP

  • Interventions to prevent deterioration:

    • Large-bore IV access, o2 therapy

    • Monitor blood loss, VS, psychosocial status

• Continued bleeding and poor contractions

When to Call Rapid Response with abortion complications? what members included?

• Develops acute vaginal bleeding

• Has increasing abdominal tenderness

• Develops a high fever

• Becomes unresponsive

• Stops producing urine

Team:

• Obsterician, Radiologist, General surgeon, Urologist, Infection disease, RN

Sepsis vs Localized Infection relating to pregnancy issues

Localized:

• Foul-smelling discharge

• Abdominal pain

• Fever

Sepsis:

• Hypotension

• Altered mental status/disorientation

• Hemodynamic instability

• Organ dysfunction

Discharge Teaching After Pregnancy Complications

• Use contraception to prevent pregnancy if desired

• Complete prescribed antibiotics

• Increase fluids to approximately 64 oz/day

• Rest and avoid overexertion

• Avoid strenuous exercise

• Avoid alcohol for 48 hr or while taking narcotics

• Avoid putting anything in the vagina for the specified period

Intrauterine Fetal Demise (IUFD) / Stillbirth, causes, r/x, and s/s

Fetal death occuring at or beyond viability

Causes:

• Fetal growth restriction (FGR)

• Placental abnormalities

• Trisomy 21,18,13 and Turner

R/x:

• Placental abruption, previa, single artery, abnormal cord insertion

• Mom:

  • DM, Preeclampsia, HTN, Obesity

  • Antiphospholipid syndrome

  • >35 years, first pregnancy with older age

  • Multiple gestation

• Fetal:

  • FGR, abnormalities

  • >40 weeks

  • Late start to prenatal care

• Lifestyle:

  • Tobacco, Alcohol, Illicit drugs

S/s:

• Asymptomatic or

• Decreased fetal movement or non

• Client may “feel” smthing is wrong

IUFD d/x & care

D/x:

• Fetal doppler or external electronic fetal monitoring or US

• Also ask when they last felt a fetal movement

• CBC, Blood type + rH, HBsAG Coag

• Syphillis, HIV, Rubella, Urine toxicology

• Check umbilical cord

• Culture of mom and fetus placenta

Care

• EMPATHY + PRIVACY + RESPECT + CHOICE

• Emotional Support

• Respect family wishes

  • If they want to hold, bathe, name, or photograph baby

  • Memory box, clothing, foot prints, religious ceremonies

• A/x for possible PPD, Anxiety, depression, or dysfunctional grieving

• Vaginal birth is prefered

T/x:

• If <24 weeks → D&E

• >24 weeks → misoprostol + oxytocin

  • Or balloon cathether: ripens cervix for labor

    • 12 hours to work

• Breast Care

  • Stop milk production

  • Possible breast milk donation

• Reduce exposure to other newborns crying

• Follow up with support systems and birth control or emotional recovery